Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078036 | SCV000109874 | benign | not specified | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078036 | SCV000246728 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311547 | SCV000846063 | benign | Inborn genetic diseases | 2015-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001514284 | SCV001722090 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000990884 | SCV001775413 | benign | Menkes kinky-hair syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554196 | SCV001775414 | benign | Cutis laxa, X-linked | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554197 | SCV001775415 | benign | X-linked distal spinal muscular atrophy type 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610349 | SCV001836310 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000078036 | SCV001741201 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000078036 | SCV001807910 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000078036 | SCV001925575 | benign | not specified | no assertion criteria provided | clinical testing |